Canonical Allele Identifier: CA8644243
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 281778
ClinVar RCV Id: RCV000285632 RCV000363294 RCV000309975 RCV000559926 RCV000403242 RCV001726085 RCV002278266 RCV002328757
dbSNP Id: rs1800219
ExAC: 17:48263208 G / A
gnomAD v2: 17-48263208-G-A
gnomAD v3: 17-50185847-G-A
gnomAD v4: 17-50185847-G-A
MyVariant Identifiers: chr17:g.48263208G>A (hg19) chr17:g.50185847G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50185847G>A , CM000679.2:g.50185847G>A GRCh38
NC_000017.10:g.48263208G>A , CM000679.1:g.48263208G>A GRCh37
NC_000017.9:g.45618207G>A NCBI36
NG_007400.1:g.20793C>T , LRG_1:g.20793C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.4179C>T MANE Select ENSP00000225964.6:p.Ser1393=
ENST00000225964.9:c.4179C>T ENSP00000225964.5:p.Ser1393=
ENST00000510710.3:n.1144C>T
NM_000088.3:c.4179C>T , LRG_1t1:c.4179C>T NP_000079.2:p.Ser1393=
XM_005257058.3:c.3909C>T XP_005257115.2:p.Ser1303=
XM_005257059.3:c.3261C>T XP_005257116.2:p.Ser1087=
XM_011524341.1:c.3981C>T XP_011522643.1:p.Ser1327=
XM_005257058.4:c.3909C>T XP_005257115.2:p.Ser1303=
XM_005257059.4:c.3261C>T XP_005257116.2:p.Ser1087=
NM_000088.4:c.4179C>T MANE Select NP_000079.2:p.Ser1393=
Search 100 bp 5'
Search 100 bp 3'